Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate a novel role for lysosomal exocytosis in clearing intracellular α-syn and show that impairment of this pathway by mutations in the PD-linked gene ATP13A2/PARK9 contributes to α-syn accumulation in human dopaminergic neurons.
|
31097622 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
These variants included loss of function and missense changes in 18 genes that were never previously linked to PD (NOTCH4, BCOR, ITM2B, HRH4, CELSR1, SNAP91, FAM174A, BSN, SPG7, MAGI2, HEPHL1, EPRS, PUM1, CLSTN1, PLCB3, CLSTN3, DNAJB9 and NEFH) and 2 genes that were previously associated with PD (EIF4G1 and ATP13A2).
|
30833663 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ATP13A2 cause Kufor-Rakeb syndrome (KRS), a juvenile form of Parkinson's disease (PD) with dementia.
|
31393918 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ATP13A2 gene (PARK9, CLN12, OMIM 610513) were initially associated with a form of Parkinson's Disease (PD) known as Kufor Rakeb Syndrome (KRS).
|
31132336 |
2019 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
This suggests that pink1, atp13a2 and uchl1 expressions are regulated by inflammation, and this regulatory mechanism might be involved in the progress of PD.
|
31201839 |
2019 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in the gene ATP13A2 are associated with Kufor-Rakeb Syndrome and Neuronal Ceroid Lipofuscinosis, the former designated as an inherited form of Parkinson's disease (PD).
|
29407413 |
2018 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
At least some P5B isoforms are of vital importance for the nervous system, since ATP13A2 and ATP13A4 are linked to respectively Parkinson disease and autism spectrum disorders.
|
29505581 |
2018 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, recent data suggests that heterozygous carriers of mutations in ATP13A2 may confer risk for the development of Parkinson's disease, similar to the association of mutations in glucocerebrosidase (GBA) with both Parkinson's disease and Gaucher's disease, a lysosomal storage disorder.
|
29859891 |
2018 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
ATP13A2 mutations are rare cause of autosomal recessive juvenile-onset Parkinson disease.
|
29903538 |
2018 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
The P-type ATPase ATP13A2 protein was originally associated with a form of Parkinson's Disease (PD) known as Kufor Rakeb Syndrome (KRS).
|
29169913 |
2018 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in ATP13A2 result in the Kufor-Rakeb Syndrome (KRS), a form of autosomal Parkinson's disease (PD).
|
28334751 |
2017 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
To date, a total of 7 genes including SNCA, LRRK2, PARK2, DJ-1, PINK 1, VPS35 and ATP13A2 have been seen to cause unequivocally Mendelian PD.
|
28541025 |
2017 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genes encoding lysosomal proteins, such as ATP13A2 and GBA, are associated with familial Parkinson's disease (PD).
|
28894968 |
2017 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
|
28137957 |
2017 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our data suggested that TXNIP blocked autophagic flux and induced α-synuclein accumulation through inhibition of ATP13A2, indicating TXNIP was a disease-causing protein in PD.
|
28755477 |
2017 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Until now, fourteen mutations in ATP13A2 have been associated with KRS, while other mutations have been reported in association with neuronal ceroid lipofuscinosis (NCL) and early-onset PD.
|
26965689 |
2017 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the remaining cases, next generation sequencing was carried out revealing variants in a number of other known complex spastic paraplegia genes, including five in SPG7 (5/97), four in FA2H (also known as SPG35) (4/97) and two in ZFYVE26/SPG15 Variants were identified in genes usually associated with pure spastic paraplegia and also in the Parkinson's disease-associated gene ATP13A2, neuronal ceroid lipofuscinosis gene TPP1 and the hereditary motor and sensory neuropathy DNMT1 gene, highlighting the genetic heterogeneity of spastic paraplegia.
|
27217339 |
2016 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The ATP13A2 A746T variant is rare in Han Chinese patients and controls and is not associated with PD susceptibility in this ethnic group.
|
26000924 |
2016 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
This constitutes a heretofore unrecognized process associated with loss of ATP13A2 function that could have wide-ranging implications for it as a therapeutic target for PD and other related conditions.
|
26818499 |
2016 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Thus, we propose that ATP13A2 and SYT11 form a new functional network in the regulation of the autophagy-lysosome pathway, which is likely to contribute to forms of PD-associated neurodegeneration.
|
27278822 |
2016 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Thus, the N-terminal binding of PA and PI(3,5)P2 emerges as a key to unlock the activity of ATP13A2, which may offer a therapeutic strategy to activate ATP13A2 and thereby reduce α-synuclein toxicity or mitochondrial stress in PD or related disorders.
|
26134396 |
2015 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
These discoveries provide a new understanding of the role that ATP13A2 plays in the development of PD and identify a therapeutic target that may ameliorate α-synuclein accumulation and lysosomal and mitochondrial dysfunction in Parkinson's disease.
|
25900096 |
2015 |
Parkinson Disease
|
0.600 |
Biomarker
|
disease |
BEFREE |
Collectively, our data demonstrate a distinct lack of ATP13A2-mediated protection against α-synuclein-induced neurotoxicity in the rat nigrostriatal dopaminergic pathway, and limited neuroprotective capacity overall, and raise doubts about the potential of ATP13A2 as a therapeutic target for PD.
|
25461191 |
2015 |
Parkinson Disease
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study explored the mutations at the Thr12Met and Ala1144Thr gene loci of the ATP13A2 gene in Parkinson's disease patients in the Uygur and Han populations in the Xinjiang province.
|
25374329 |
2014 |
Parkinson Disease
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
We identified that elevated alpha-synuclein messenger RNA levels in SN DA neurons of human PD brains were positively correlated with corresponding elevated levels of mRNAs for functional compensation of progressive SN DA loss and for enhanced proteasomal (PARK5/UCHL1) and lysosomal (PARK9/ATPase13A2) function, possibly counteracting alpha-synuclein toxicity.
|
24742361 |
2014 |